Dural CIC::DUX4 sarcoma presenting with intracranial hemorrhage at both initial diagnosis and recurrence: a case report and literature review.

Abstract

CIC-rearranged sarcoma, a rare, undifferentiated small round cell tumor characterized by CIC gene fusions, arises in deep soft tissues of extremities and trunk, whereas an intracranial origin is rare. We report an 11-year-old girl with dural CIC-rearranged sarcoma presenting with intracranial hemorrhage at both initial diagnosis and recurrence. She presented with a sudden-onset headache and motor aphasia. Computed tomography revealed a left frontal convexity lesion with extensive acute subdural hematoma. Due to rapidly deteriorating consciousness, emergent hematoma evacuation and tumor resection were performed. Intraoperatively, the tumor was attached to the dura, suggesting a dural origin. Histopathologic examination demonstrated densely packed, atypical, small round cells within a stromal background; tumor cells were also identified in the dura mater. Comprehensive genomic profiling identified a CIC::DUX4 fusion, leading to the definitive diagnosis of CIC-rearranged sarcoma. She received adjuvant chemotherapy and radiotherapy, without recurrence evidence at 9 months postoperatively, but developed recurrent hemorrhagic lesions in the middle cranial fossa and along the tentorial edge 2 months later. Emergent surgery revealed two lesions with dural attachment; pathology confirmed recurrence. Aggressive growth and marked hemorrhagic tendency observed in this first reported case of dural CIC-rearranged sarcoma highlight the importance of vigilant follow-up and timely clinical intervention.